Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000360593 | SCV000338961 | pathogenic | not provided | 2016-02-05 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000360593 | SCV001169094 | likely pathogenic | not provided | 2019-03-06 | criteria provided, single submitter | clinical testing | The c.5954dupT variant in the FREM2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.5954ddupT variant causes a frameshift starting with codon Methionine 1985, changes this amino acid to an Isoleucine residue, and creates a premature Stop codon at position 19 of the new reading frame, denoted p.Met1985IlefsX19. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.5954dupT variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.5954dupT as a likely pathogenic variant. |
Invitae | RCV000360593 | SCV003250242 | pathogenic | not provided | 2023-05-04 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 285788). This variant has not been reported in the literature in individuals affected with FREM2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Met1985Ilefs*19) in the FREM2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FREM2 are known to be pathogenic (PMID: 18203166, 26552811). |